{
    "disease_id": "DOID:0111589", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008996", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008996", 
            "name": "Joubert syndrome with hepatic defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008996", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008996", 
            "name": "cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008996", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008996", 
            "name": "JS-H"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008996", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008996", 
            "name": "gentile syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008996", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008996", 
            "name": "Joubert syndrome with congenital hepatic fibrosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008996", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008996", 
            "name": "cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008996", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008996", 
            "name": "cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111589", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111589", 
            "name": "cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111589", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111589", 
            "name": "Gentile syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111589", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111589", 
            "name": "JS-H"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111589", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111589", 
            "name": "Joubert syndrome with congenital hepatic fibrosis"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111589", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111589", 
            "name": "Joubert syndrome with hepatic defect"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111589", 
        "description": "A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L).", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111589", 
        "name": "COACH syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111589#disease-associations", 
            "id": "0111589", 
            "database": "Alliance of Genome Resources"
        }
    ]
}